Variant report

Variant	esv3338180
Chromosome Location	chr21:40504382-40508680
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40040912..40041817-chr21:40507070..40508725,4	MCF-7	breast:
2	chr21:40177357..40179750-chr21:40506516..40509487,2	MCF-7	breast:
3	chr21:40105479..40106305-chr21:40507907..40508515,2	MCF-7	breast:
4	chr21:40480711..40483661-chr21:40502409..40504559,3	K562	blood:
5	chr21:40277363..40279174-chr21:40508328..40510405,2	K562	blood:

Variant related genes	Relation type
ENSG00000157557	chromatin interactions

Extended variants
information (count: 155 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545315708	chr21:40504395-40504396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114666670	chr21:40504447-40504448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2836906	chr21:40504502-40504503	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs375456933	chr21:40504506-40504507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560961830	chr21:40504562-40504563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs8131956	chr21:40504642-40504643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs62224879	chr21:40504657-40504658	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs141266051	chr21:40504671-40504672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2836907	chr21:40504673-40504674	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs187342271	chr21:40504675-40504676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372745983	chr21:40504701-40504702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538140668	chr21:40504709-40504710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556967091	chr21:40504793-40504794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534351228	chr21:40504796-40504797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113744935	chr21:40504822-40504823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575317722	chr21:40504890-40504891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191918013	chr21:40504935-40504936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79555481	chr21:40505020-40505021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34818274	chr21:40505041-40505042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs151225978	chr21:40505052-40505053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536291074	chr21:40505053-40505054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369618775	chr21:40505072-40505073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573684796	chr21:40505075-40505076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140267703	chr21:40505116-40505117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs118114901	chr21:40505147-40505148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576708390	chr21:40505159-40505160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184349317	chr21:40505167-40505168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371897054	chr21:40505191-40505192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188446291	chr21:40505197-40505198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573201795	chr21:40505207-40505208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376750347	chr21:40505238-40505239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181462111	chr21:40505257-40505258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150350416	chr21:40505258-40505259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560999340	chr21:40505333-40505334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs137961388	chr21:40505362-40505363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs57342585	chr21:40505393-40505394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142052394	chr21:40505439-40505440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184293173	chr21:40505448-40505449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377074194	chr21:40505465-40505466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2836908	chr21:40505513-40505514	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs77244064	chr21:40505514-40505515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2836909	chr21:40505569-40505570	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs567407992	chr21:40505622-40505623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201535756	chr21:40505676-40505677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs72559336	chr21:40505680-40505681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35551329	chr21:40505681-40505682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145905621	chr21:40505696-40505697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182051343	chr21:40505741-40505742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34415666	chr21:40505807-40505808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186299892	chr21:40505874-40505875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40497800-40506200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:40503400-40505600	Enhancers	HepG2	liver
3	chr21:40503400-40508600	Weak transcription	Esophagus	oesophagus
4	chr21:40503600-40506200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr21:40503600-40508400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:40503800-40508800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr21:40504000-40508800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr21:40504200-40505000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr21:40504800-40505200	Enhancers	Placenta	Placenta
10	chr21:40504800-40505400	Enhancers	Fetal Stomach	stomach
11	chr21:40504800-40509400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr21:40505000-40510000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr21:40505200-40508600	Weak transcription	Placenta	Placenta
14	chr21:40505400-40505600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr21:40505600-40507200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr21:40505600-40507400	Weak transcription	HepG2	liver
17	chr21:40505800-40506000	Enhancers	Fetal Muscle Trunk	muscle
18	chr21:40506200-40506400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr21:40506200-40506400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr21:40506200-40506600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr21:40506400-40506600	Enhancers	Fetal Kidney	kidney
22	chr21:40506400-40506800	Bivalent/Poised TSS	Fetal Brain Male	brain
23	chr21:40506400-40506800	Bivalent Enhancer	K562	blood
24	chr21:40506400-40507200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr21:40506400-40508600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr21:40506600-40506800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr21:40506600-40506800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr21:40506800-40508600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr21:40506800-40508800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr21:40507200-40509800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr21:40507200-40510200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr21:40507400-40509800	Enhancers	Spleen	Spleen
33	chr21:40507400-40510600	Enhancers	HepG2	liver
34	chr21:40507800-40509000	Weak transcription	Fetal Kidney	kidney
35	chr21:40508000-40508200	Enhancers	Dnd41	blood
36	chr21:40508200-40509200	Weak transcription	Dnd41	blood
37	chr21:40508400-40509400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr21:40508400-40509600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr21:40508400-40509600	Enhancers	NHEK	skin
40	chr21:40508400-40509800	Enhancers	HMEC	breast
41	chr21:40508400-40509800	Enhancers	NHDF-Ad	bronchial
42	chr21:40508600-40508800	Enhancers	Fetal Muscle Trunk	muscle
43	chr21:40508600-40509600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr21:40508600-40509600	Enhancers	Esophagus	oesophagus
45	chr21:40508600-40509600	Enhancers	Placenta	Placenta
46	chr21:40508600-40509600	Enhancers	Osteobl	bone
47	chr21:40508600-40509800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr21:40508600-40509800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr21:40508600-40509800	Enhancers	Fetal Muscle Leg	muscle
50	chr21:40508600-40509800	Enhancers	Placenta Amnion	Placenta Amnion

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